{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T14:28:35Z","timestamp":1783952915323,"version":"3.55.0"},"reference-count":16,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,6,19]],"date-time":"2023-06-19T00:00:00Z","timestamp":1687132800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2022YFC2702701"],"award-info":[{"award-number":["2022YFC2702701"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Genetic causation for the majority of non\u2010obstructive azoospermia (NOA) remains unclear. Mutations in synaptonemal complex (SC)\u2010associated genes could cause meiotic arrest and NOA. Previous studies showed that heterozygous truncating variants in <jats:italic>SYCP2<\/jats:italic> encoding a protein essential for SC formation, are associated with non\u2010obstructive azoospermia and severe oligozoospermia. Herein, we showed a homozygous loss\u2010of\u2010function variant in <jats:italic>SYCP2<\/jats:italic> (c.2689_2690insT) in an NOA\u2010affected patient. And this variant was inherited from heterozygous parental carriers by natural reproduction. HE, IF, and meiotic chromosomal spread analyses demonstrated that spermatogenesis was arrested at the zygotene stage in the proband with NOA. Thus, this study revealed that <jats:italic>SYCP2<\/jats:italic> associated with NOA segregates in an autosomal recessive inheritance pattern, rather than an autosomal dominant pattern. Furthermore, our study expanded the knowledge of variants in <jats:italic>SYCP2<\/jats:italic> and provided new insight into understanding the genetic etiology of NOA.<\/jats:p>","DOI":"10.1111\/cge.14392","type":"journal-article","created":{"date-parts":[[2023,6,20]],"date-time":"2023-06-20T05:49:26Z","timestamp":1687240166000},"page":"577-581","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["A homozygous frameshift variant in <i>SYCP2<\/i> caused meiotic arrest and non\u2010obstructive azoospermia"],"prefix":"10.1111","volume":"104","author":[{"given":"Junwei","family":"Xu","sequence":"first","affiliation":[{"name":"Department of Andrology, The Center for Men's Health, Urologic Medical Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital Shanghai Jiao Tong University School of Medicine  Shanghai 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General Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"},{"name":"State Key Lab of Reproductive Medicine Nanjing Medical University  Nanjing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haowei","family":"Bai","sequence":"additional","affiliation":[{"name":"Department of Andrology, The Center for Men's Health, Urologic Medical Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jingpeng","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Andrology, The Center for Men's Health, Urologic Medical Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"},{"name":"State Key Lab of Reproductive Medicine Nanjing Medical University  Nanjing 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Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peng","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Andrology, The Center for Men's Health, Urologic Medical Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruhui","family":"Tian","sequence":"additional","affiliation":[{"name":"Department of Andrology, The Center for Men's Health, Urologic Medical Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erlei","family":"Zhi","sequence":"additional","affiliation":[{"name":"Department of Andrology, The Center for Men's Health, Urologic Medical Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuhua","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Andrology, The Center for Men's Health, Urologic Medical Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Zhang","sequence":"additional","affiliation":[{"name":"Reproductive Medicine Research Center Sun Yat\u2010sen University Sixth Affiliated Hospital  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gang","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Andrology The Reproductive Hospital of Guangxi Zhuang Autonomous Region  Nanning Guangxi 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